Cancer Gene MutationCAFÉNCT05126290
CTNNA1 Familial Expansion Study
An observational study of Cancer Gene Mutation and Gastric Cancer, run by Abramson Cancer Center at Penn Medicine at 1 site in United States.
Trial summary
The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Cancer Gene Mutation, Gastric Cancer, Breast Cancer
- What is being tested?
- Collection of personal and family history from CAFÉ Study participants
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 16 Mar 2021to 1 Jan 2028
- How long will I take part?
- 1 Year
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: The CAFÉ Study will recruit individuals who carry a germline CTNNA1 loss-of-function variant as well as first degree relatives of germline CTNNA1 loss-of-function variant carriers.
Who may be able to join
- 18 years of age and older
- Participants must be carrier, or a first degree relative of a carrier, of a CTNNA1 loss-of-function variant defined as: a variant predicted to lead to protein truncation (nonsense and frameshift variants), a large deletion of one or more exons, or a consensus splice site variant predicted to disrupt splicing in CTNNA1. CTNNA1 loss-of-function variants do not need to be classified as pathogenic or likely pathogenic to be included.
- Participants must be able to understand and read English
- Participants must be able to provide informed verbal or written consent
Who cannot join
- Less than 18 years of age
- Individuals who do not carry a CTNNA1 loss-of-function variant and are not a first degree relative of a CTNNA1 loss-of-function variant carrier.
- Individuals who cannot speak and read English
- Major psychiatric illness or cognitive impairment that in the judgement of the study investigators or study staff would preclude study participation
- Unable to comply with the study procedures as determined by the study investigators or study staff
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Dana Farengo Clark, MS, LCGC contact
United States1 site, 1 recruiting
- Recruiting
Abramson Cancer Center of the University of Pennsylvania
Philadelphia, Pennsylvania, 19104
Bryson Katona, MD, PhD, 215-349-8222, cafestudy@pennmedicine.upenn.edu
Bryson Katona, MD, PhD
About this study
Official title: CTNNA1 Familial Expansion (CAFÉ) Study
The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants.
Read the detailed description
The CAFÉ Study aims to determine the degree to which loss-of-function variants in the CTNNA1 gene are associated with hereditary cancers, including gastric cancer, breast cancer, as well as other cancers that may be associated with this gene. By obtaining personal and family history information from individuals who carry a CTNNA1 loss-of-function variant and their family members, this study will aim to better define CTNNA1 associated cancer risks and determine whether there is a genotype/phenotype correlation for CTNNA1 loss-of-function variants. This information will be important for the future cancer risk management of individuals who carry a CTNNA1 loss-of-function variant.
- Conditions
- Cancer Gene Mutation, Gastric Cancer, Breast Cancer
- Being tested
- Collection of personal and family history from CAFÉ Study participants
- Keywords
- CTNNA1, Hereditary diffuse gastric cancer, Gastric cancer, Breast cancer
- Medical subject headings
- Stomach Neoplasms, Breast Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Collection of personal and family history from CAFÉ Study participantsOther
Personal medical and genetic history, as well as relevant information about family history, will be collected from participants in the CAFÉ Study through an online data entry system
What is being measured
The primary outcome is the main question the study is designed to answer.
Rate of cancer amongst carriers of CTNNA1 loss-of-function variants
After collecting personal and family cancer history from enrolled participants, family pedigrees will be utilized to calculate cancer risk estimates for for CTNNA1 loss-of-function variant carriers including gastric cancer risk, breast cancer risk, as well as risk of other cancers currently not known to be associated with CTNNA1 variants gene.
Measured: Through study completion, which will average 1 year
Number of CTNNA1 genotypes associated with a cancer phenotype
Using collected family pedigrees from enrolled participants, we will correlate estimated cancer risk for CTNNA1 loss-of-function variant carriers with their CTNNA1 genotype, to determine if there is a significant genotype-phenotype correlation observed.
Measured: Through study completion, which will average 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Nov 2021
- Study start16 Mar 2021
- Primary completion1 Jan 2028 (estimated)
- Study completion1 Jan 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Cancer Gene MutationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
- Target duration
- 1 Year
Sponsor and investigators
- Lead sponsor
- Abramson Cancer Center at Penn Medicine
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Bryson Katona, Abramson Cancer Center at Penn Medicine
- Investigators
- Bryson W Katona, MD, PhD, Principal investigator, University of Pennsylvania
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05126290
- Sponsor's protocol ID
- UPCC 21220
- Other IDs
- 844070
- Acronym
- CAFÉ
- Status last verified
- Feb 2026
- First submitted
- 2 Nov 2021
- Last updated
- 5 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Clark DF, Michalski ST, Tondon R, Nehoray B, Ebrahimzadeh J, Hughes SK, Soper ER, Domchek SM, Rustgi AK, Pineda-Alvarez D, Anderson MJ, Katona BW. Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer. Genet Med. 2020 May;22(5):840-846. doi: 10.1038/s41436-020-0753-1. Epub 2020 Feb 13.
PubMed 32051609
Study at a glance
From the registry record, last updated by the sponsor on 5 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- CTNNA1 Familial Expansion (CAFÉ) Study
- ClinicalTrials.gov ID
- NCT05126290
- Acronym / sponsor ID
- CAFÉ / UPCC 21220
- Conditions
- Cancer Gene Mutation, Gastric Cancer, Breast Cancer
- Keywords
- CTNNA1, Hereditary diffuse gastric cancer, Gastric cancer, Breast cancer
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Abramson Cancer Center at Penn MedicineUniversity, hospital or other
- Study start
- 16 Mar 2021 (actual)
- Primary completion
- 1 Jan 2028 (estimated)
- Study completion
- 1 Jan 2028 (estimated)
- First posted
- 19 Nov 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants.
Detailed description
The CAFÉ Study aims to determine the degree to which loss-of-function variants in the CTNNA1 gene are associated with hereditary cancers, including gastric cancer, breast cancer, as well as other cancers that may be associated with this gene. By obtaining personal and family history information from individuals who carry a CTNNA1 loss-of-function variant and their family members, this study will aim to better define CTNNA1 associated cancer risks and determine whether there is a genotype/phenotype correlation for CTNNA1 loss-of-function variants. This information will be important for the future cancer risk management of individuals who carry a CTNNA1 loss-of-function variant.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 1 Year
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- The CAFÉ Study will recruit individuals who carry a germline CTNNA1 loss-of-function variant as well as first degree relatives of germline CTNNA1 loss-of-function variant carriers.
Key inclusion criteria (4 listed)
- 18 years of age and older
- Participants must be carrier, or a first degree relative of a carrier, of a CTNNA1 loss-of-function variant defined as: a variant predicted to lead to protein truncation (nonsense and frameshift variants), a large deletion of one or more exons, or a consensus splice site variant predicted to disrupt splicing in CTNNA1. CTNNA1 loss-of-function variants do not need to be classified as pathogenic or likely pathogenic to be included.
- Participants must be able to understand and read English
- Participants must be able to provide informed verbal or written consent
Key exclusion criteria (5 listed)
- Less than 18 years of age
- Individuals who do not carry a CTNNA1 loss-of-function variant and are not a first degree relative of a CTNNA1 loss-of-function variant carrier.
- Individuals who cannot speak and read English
- Major psychiatric illness or cognitive impairment that in the judgement of the study investigators or study staff would preclude study participation
- Unable to comply with the study procedures as determined by the study investigators or study staff
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Collection of personal and family history from CAFÉ Study participantsPersonal medical and genetic history, as well as relevant information about family history, will be collected from participants in the CAFÉ Study through an online data entry system | Other | – |
Primary outcome
Rate of cancer amongst carriers of CTNNA1 loss-of-function variants
Time frame: Through study completion, which will average 1 year
After collecting personal and family cancer history from enrolled participants, family pedigrees will be utilized to calculate cancer risk estimates for for CTNNA1 loss-of-function variant carriers including gastric cancer risk, breast cancer risk, as well as risk of other cancers currently not known to be associated with CTNNA1 variants gene.
Number of CTNNA1 genotypes associated with a cancer phenotype
Time frame: Through study completion, which will average 1 year
Using collected family pedigrees from enrolled participants, we will correlate estimated cancer risk for CTNNA1 loss-of-function variant carriers with their CTNNA1 genotype, to determine if there is a significant genotype-phenotype correlation observed.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Feb 2026.
- Background: PubMed 32051609Clark DF, Michalski ST, Tondon R, Nehoray B, Ebrahimzadeh J, Hughes SK, Soper ER, Domchek SM, Rustgi AK, Pineda-Alvarez D, Anderson MJ, Katona BW. Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer. Genet Med. 2020 May;22(5):840-846. doi: 10.1038/s41436-020-0753-1. Epub 2020 Feb 13.
- Study websiteLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Dana Farengo Clark, MS, LCGC contact
Bryson W Katona, MD, PhD principal investigator
University of Pennsylvania
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cancer Gene Mutation and Gastric Cancer, run by Abramson Cancer Center at Penn Medicine at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Bryson W Katona, MD, PhD (215-349-8222, cafestudy@pennmedicine.upenn.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Rate of cancer amongst carriers of CTNNA1 loss-of-function variants (time frame: Through study completion, which will average 1 year). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05126290, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Feb 2026.